Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Brian P. O’Neill, Hugo W. Moser, Lee C. Marmion

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.

Original languageEnglish (US)
Pages (from-to)540-542
Number of pages3
JournalNeurology
Volume32
Issue number5
DOIs
StatePublished - May 1982

ASJC Scopus subject areas

  • Clinical Neurology

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